Monica Rodriguez-Valero MD, Adrian Pastolero BS, Shelby Redfield MS CGC, Alma Medrano MD, Melania Abreu-Gonzalez MD, Jose Francisco Gallardo-Ollervides MD, Juan Carlos Cisneros Lesser MD, Maria Fernanda Hinojosa Valencia PhD, Dennis Poe MD, PhD, Eliot Shearer MD, PhD
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Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations.</p>\n </section>\n \n <section>\n \n <h3> Level of evidence</h3>\n \n <p>Level 4 (cohort study).</p>\n </section>\n </div>","PeriodicalId":48529,"journal":{"name":"Laryngoscope Investigative Otolaryngology","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/lio2.1291","citationCount":"0","resultStr":"{\"title\":\"High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation\",\"authors\":\"Monica Rodriguez-Valero MD, Adrian Pastolero BS, Shelby Redfield MS CGC, Alma Medrano MD, Melania Abreu-Gonzalez MD, Jose Francisco Gallardo-Ollervides MD, Juan Carlos Cisneros Lesser MD, Maria Fernanda Hinojosa Valencia PhD, Dennis Poe MD, PhD, Eliot Shearer MD, PhD\",\"doi\":\"10.1002/lio2.1291\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. 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引用次数: 0
摘要
目的：目前尚缺乏利用基因组学技术评估西班牙裔和拉丁裔人群遗传性感音神经性听力损失（SNHL）的研究。最近的数据显示，尽管西班牙裔和拉丁裔儿童的感音神经性听力损失发病率与亚裔和白人儿童相似，但他们的遗传诊断率较低，因此对他们的临床治疗产生了负面影响。我们的目标是确定接受人工耳蜗植入评估的墨西哥儿童群体中 SNHL 的遗传因素。 方法 我们招募了正在接受人工耳蜗植入评估的墨西哥重度到极重度SNHL儿童患者。进行外显子组测序（ES）或听力损失基因面板检测。根据美国医学遗传学会（American College of Medical Genetics）制定的标准确定变异的致病性，并通过 CLIA 认证实验室对感兴趣的变异进行临床确认。 结果 对 30 名患有重度到极重度 SNHL 的墨西哥儿童完成了遗传评估。47%（14 名）的病例确定了遗传原因，7%（2 名）的病例结果不确定。在诊断结果中，10 例（71%）为综合征或可能为综合征，4 例（29%）为非综合征。有 8 名受试者（占所有综合征受试者的 80%）被诊断出患有综合征形式的听力损失，这种听力损失在幼年时的临床表现与非综合征相似，因此如果不进行基因检测，仅根据临床评估是无法怀疑这种听力损失的。 结论 这是迄今为止对患有重度至极重度SNHL的墨西哥儿童进行全面基因组检测评估的最大规模研究。队列中相当一部分儿童被诊断为综合听力损失。今后需要对更大范围内患有不同程度听力损失的墨西哥儿童进行研究，以提高基因检测的有效性，并对这些不同种族的人群进行及时的医疗干预。 证据等级 4 级（队列研究）。
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation
Objective
Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation.
Methods
Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory.
Results
Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing.
Conclusion
This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations.
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